Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency

NGS has become a first-line tool for diagnosis of PID. However, patient access remains limited due to restricted insurance coverage and a lack of guidelines addressing use of targeted panels vs WES.

Source: Journal of Allergy and Clinical Immunology - August 31, 2020 Category: Allergy & Immunology Authors: Craig D. Platt, Fatima Zaman, Wayne Bainter, Kelsey Stafstrom, Abuarahman Almutairi, Margot Reigle, Sabrina Weeks, Raif S. Geha, Janet Chou, International Consortium for Immunodeficiencies Source Type: research